Details of Disease

General Information of Disease (ID: DISTPE0P)

Disease Name MYPN-related myopathy
Synonyms NEM11; nemaline myopathy 11; nemaline myopathy caused by mutation in MYPN; nemaline myopathy 11, autosomal recessive; nemaline myopathy type 11; MYPN nemaline myopathy; MYPN-related myopathy
Definition
Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.
Disease Hierarchy
DIS5IYLY: Nemaline myopathy
DISTPE0P: MYPN-related myopathy
Disease Identifiers
MONDO ID
MONDO_0015023
UMLS CUI
C4479186
OMIM ID
617336
MedGen ID
1384302

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYPN OTHTOFDU Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.